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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SRSF2

Variant:p.E53V

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SRSF2

NM_001195427.2:p.E53V

hg38:chr17:76737003 T>A

Associated Papers

Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations.

Knower KC et al.

Plos One, 2011

21412441 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."